Published in Neuromuscul Disord on November 09, 2012
Recent advances in Cys-loop receptor structure and function. Nature (2006) 4.20
ASRA Practice Advisory on Neurologic Complications in Regional Anesthesia and Pain Medicine. Reg Anesth Pain Med (2008) 2.72
Mutations in myotilin cause myofibrillar myopathy. Neurology (2004) 2.41
A novel, efficient, randomized selection trial comparing combinations of drug therapy for ALS. Amyotroph Lateral Scler (2008) 2.28
Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM. Neurology (2007) 2.14
Electromyographic findings in 37 patients with adult-onset acid maltase deficiency. Muscle Nerve (2015) 2.07
B-mode ultrasound assessment of diaphragm structure and function in patients with COPD. Chest (2014) 2.04
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
Motor unit potential induced repetitive discharges (MIRDs): description of an unusual iterative discharge. Muscle Nerve (2013) 1.97
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain (2004) 1.80
Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol (2005) 1.80
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol (2003) 1.77
An outbreak of neurological autoimmunity with polyradiculoneuropathy in workers exposed to aerosolised porcine neural tissue: a descriptive study. Lancet Neurol (2009) 1.73
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet (2002) 1.61
Are MuSK antibodies the primary cause of myasthenic symptoms? Neurology (2004) 1.54
Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A (2003) 1.50
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. Neuromuscul Disord (2010) 1.50
Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. Neurology (2012) 1.49
Gadolinium enhancement of the lumbar roots in a case of ALS. Amyotroph Lateral Scler (2010) 1.49
Risk of hematoma following needle electromyography of the paraspinal muscles. Muscle Nerve (2011) 1.46
Patients who survive 5 years or more with ALS in Olmsted County, 1925-2004. J Neurol Neurosurg Psychiatry (2010) 1.46
Hematoma risk after needle electromyography. Muscle Nerve (2012) 1.46
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. Neuromuscul Disord (2011) 1.41
What is next in ALS clinical trials? Neurology (2007) 1.40
Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J Clin Invest (2003) 1.36
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord (2005) 1.35
Uniform demyelination and more severe axonal loss distinguish POEMS syndrome from CIDP. J Neurol Neurosurg Psychiatry (2012) 1.32
Sporadic late onset nemaline myopathy. Neurology (2005) 1.32
Survival profiles of patients with frontotemporal dementia and motor neuron disease. Arch Neurol (2009) 1.26
Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating. J Gen Physiol (2002) 1.23
The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading. J Physiol (2006) 1.16
Reconstitution of paired T cell receptor alpha- and beta-chains from microdissected single cells of human inflammatory tissues. Proc Natl Acad Sci U S A (2006) 1.14
Beyond Parkinson disease: amyotrophic lateral sclerosis and the axon guidance pathway. PLoS One (2008) 1.13
Structural abnormalities at neuromuscular synapses lacking multiple syntrophin isoforms. J Neurosci (2004) 1.12
Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. Ann Neurol (2006) 1.12
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol (2013) 1.11
Two-dimensional ultrasound imaging of the diaphragm: quantitative values in normal subjects. Muscle Nerve (2013) 1.11
C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse. J Biol Chem (2003) 1.08
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol (2005) 1.05
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve (2011) 1.05
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol (2008) 1.05
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. J Clin Invest (2008) 1.04
A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol (2014) 1.03
Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders. EMBO J (2004) 1.02
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum Mol Genet (2008) 1.00
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum Mol Genet (2003) 0.99
Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations. Muscle Nerve (2011) 0.98
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome. Hum Mol Genet (2009) 0.96
Accuracy of motor axon regeneration across autograft, single-lumen, and multichannel poly(lactic-co-glycolic acid) nerve tubes. Neurosurgery (2008) 0.96
Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating. J Clin Invest (2012) 0.95
Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker. Brain (2004) 0.95
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. Neuromuscul Disord (2004) 0.94
ALS Multicenter Cohort Study of Oxidative Stress (ALS COSMOS): study methodology, recruitment, and baseline demographic and disease characteristics. Amyotroph Lateral Scler Frontotemporal Degener (2014) 0.94
Efficacy of intra-articular botulinum toxin type A in painful knee osteoarthritis: a pilot study. PM R (2010) 0.94
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. Neurology (2003) 0.93
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. Hum Mol Genet (2013) 0.91
Congenital myasthenic syndromes: gene mutations. Neuromuscul Disord (2004) 0.90
Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptor. J Physiol (2007) 0.88
Utility of ultrasound-guided surface electrode placement in lateral femoral cutaneous nerve conduction studies. Muscle Nerve (2011) 0.88
Teaching neuroimages: hydroxychloroquine-induced vacuolar myopathy. Neurology (2013) 0.87
Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2. Muscle Nerve (2010) 0.87
Purkinje cell cytoplasmic autoantibody type 1 accompaniments: the cerebellum and beyond. Arch Neurol (2011) 0.87
Sonography in carpal tunnel syndrome. Muscle Nerve (2011) 0.86
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. Neurology (2011) 0.86
Congenital myasthenic syndromes: genetic defects of the neuromuscular junction. Curr Neurol Neurosci Rep (2002) 0.85
Functional consequences and structural interpretation of mutations of human choline acetyltransferase. Hum Mutat (2011) 0.85
Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis. Muscle Nerve (2009) 0.85
Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia. Neuromuscul Disord (2011) 0.84
Inclusion body myositis: laser microdissection reveals differential up-regulation of IFN-γ signaling cascade in attacked versus nonattacked myofibers. Am J Pathol (2011) 0.84
Electrophysiologic findings and grip strength after nerve injuries in the rat forelimb. Muscle Nerve (2008) 0.84
Myofibrillar myopathies. Handb Clin Neurol (2011) 0.84
A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. Hum Mol Genet (2003) 0.83
GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity. Neurology (2013) 0.83
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology (2014) 0.83
Effects of ginsenosides, active components of ginseng, on nicotinic acetylcholine receptors expressed in Xenopus oocytes. Eur J Pharmacol (2002) 0.82
IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit. Neuromuscul Disord (2005) 0.82
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol. Pediatr Neurol (2012) 0.82
HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. Sci Rep (2013) 0.82
Splicing abnormalities in congenital myasthenic syndromes. Acta Myol (2005) 0.81
Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophy. Can J Neurol Sci (2004) 0.80
Measurement of forelimb function by digital video motion analysis in rat nerve transection models. J Peripher Nerv Syst (2008) 0.79
Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype. Ann Neurol (2002) 0.79
Prostate cancer with perineural spread and dural extension causing bilateral lumbosacral plexopathy: case report. J Neurosurg (2015) 0.78
Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis. Chem Biol Interact (2012) 0.78
Congenital myasthenic syndromes:gene mutations. Neuromuscul Disord (2003) 0.78
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. JIMD Rep (2011) 0.78
Electromyographic Findings in Gracilis Muscle Grafts Used to Augment Elbow Flexion in Traumatic Brachial Plexopathy. J Clin Neurophysiol (2016) 0.77
Strength, physical activity, and fasciculations in patients with ALS. Amyotroph Lateral Scler (2008) 0.76
Assessing spinal muscular atrophy with quantitative ultrasound. Neurology (2011) 0.76
Inclusion-body myositis presenting with facial diplegia. Muscle Nerve (2013) 0.76
Teaching NeuroImages: PET-CT hypermetabolism paralleling muscle hyperactivity in stiff-person syndrome. Neurology (2013) 0.76
Recent structural and mechanistic insights into endplate acetylcholine receptors. Ann N Y Acad Sci (2008) 0.75
Role of insulin-like growth factor-I in the treatment of painful small fiber predominant neuropathy. J Peripher Nerv Syst (2004) 0.75
Reply: To PMID 24037773. Muscle Nerve (2014) 0.75
Author Response: Andrea J. Boon, Eric J. Sorenson, Jeffery A. Strommen, James C. Watson, Rochester, MN. Neurology (2015) 0.75
Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria. Muscle Nerve (2015) 0.75
Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency. Hum Genet (2005) 0.75
Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency. Hum Genet (2005) 0.75
Anesthesia and Poliomyelitis: A Matched Cohort Study. Anesth Analg (2016) 0.75